Rare Disease Story: Bug.
CFD has been the bane of our existence for 7 years. 6 years we spent in the dark, wondering why our son’s seizures were getting worse, why his communication was absent, why he seized less when he had a fever and why he couldn’t walk a straight line anymore.
The last year, since his diagnosis, has seen great improvements with a long way to go.
CFD usually begins with seizures, lack of speech, the stiffening of muscles, losing the ability to walk or problems with eyesight, around the age of 3 to 4 years old.
Our son started seizing just before his 3rd birthday. The first indicator that there was something to look for, was his sleep pattern or lack of it from birth. To say he was a lousy sleeper would assume he did sleep. Any baby sleeping less than an hour, awakening to eat and then sleeping less than another hour off and on all night, should not be disregarded as some physicians may recommend.
Sleep disturbances are common in CFD. Folate is important to several key functions in the body: Immune system regulation, dopamine creation, protein binding, and gastrointestinal regularities.
How do these relate to our son’s symptoms? Looking back, the symptoms SCREAMED: CFD!
Bug had all of his vaccines on schedule. After his second DTaP he had his first seizure. The vaccines didn’t CAUSE the seizures, but they exacerbated the condition. When Bug is starting to get sick, he seizes more. When he has a fever, he does NOT seize. Ever. Has NEVER seized when he has a fever. It’s odd; we were told with more than a hint of skepticism. But it’s also, a red flag.
When a person is getting ready for sleep, the ‘sensors’ in the eyes trigger melatonin, which is produced from serotonin, and is responsible for a person feeling drowsy and getting ready to sleep. Bug’s sleep disturbances are the second red flag. He would sleep better taking Melatonin but without it, he was up every few hours, if he slept at all. His first few EEG’s done during sleep showed no REM. Bug was not dreaming, he was not getting into any recognizable sleep pattern and he was not writing long term memory well. He regressed.
Bug loved to eat steak and beef and chicken and despised sugars. This alone does not affect the protein binding that one needs to build good Neuro pathways, but it is a clue that there is an imbalance in the system. Protein breakdown and lack of protein is a known issue for Autistic persons. Bug was labeled Autistic when he was 4. It was not a shock; it was clue. Autism patients have been known to test positive for the folate autoantibody and if they don’t, the treatment still has shown positive results.
Bug never had well formed stool. And his soiled diapers where frequent. Very frequent. He averaged 6 soiled diapers a day, even after he was no longer breast fed (which he refused to do after the age of 4 months – he would not take ANY breast milk. We surmise now, because it was too sweet). Once he started seizing, anytime he would be constipated or had diarrhea which was twice to three times a month, he would seize more. Doctors told us this is common with people who have seizures, but it is also a red flag. He also suffered from Cyclical Vomiting Syndrome. For no known reason he would just stop eating and then start throwing up everything he did eat. We would take him to the Doctor, get some medication and he would get better, only to start it all over again a few weeks later. It is common in patients with CFD.
Other signs include:
Lack of speech or loss of speech.
Eyesight problems leading to eventual blindness.
Loss of coordination.
How is one tested for CFD?
Most blood work will be completely normal. There may be irregularities in protein levels, and amino acids but unless they are large anomalies, most Doctors will not make the connection. A lumbar puncture is the best way to get a clear picture. CFD is always associated with a low level of 5-MTHF (5 – Methyltetrahydrofolate – an important neurotransmitter).
The treatment for CFD is well known and readily available. Since the body does not do well with its own folate (but the patient can still have normal blood levels of folate and B Vitamins) supplementing with folic acid is usually ineffectual and if the patient has the autoantibody, it can make their symptoms worse. A prescription Follinic Acid is the first medication a Doctor will order after diagnosis. Follinic Acid is an analog folate, specifically developed to cross the blood-brain barrier and assist in raising the levels of 5-MTHF. Because folate is a B vitamin, most Doctors familiar with CFD will also order B Vitamin injections. If the patient also has the autoantibody, it is important to test for antibodies to the vaccines they have already had, if they have had them. If the antibodies are present, IVIg may be ordered, if they are not, a more cautious approach is required.
Since the addition of Follinic Acid, our son’s seizures have decreased, he has not had a bout of Cyclical Vomiting, his stool is almost normal, he is sleeping through the night with NO assistance, he is making sustained and meaningful eye contact and he is babbling. No real words yet, but he is working on it. It took us 5 years to get the lumbar puncture that would change our lives, I may wish we had that time back, but we are more focused than ever about making the time ahead hopeful and beautiful, for Bug’s sake.
– Annette Maughan